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Direct linkChow, Julie C.; Hormozdiari, Fereydoun – Journal of Autism and Developmental Disorders, 2023
The early detection of neurodevelopmental disorders (NDDs) can significantly improve patient outcomes. The differential burden of non-synonymous de novo mutation among NDD cases and controls indicates that de novo coding variation can be used to identify a subset of samples that will likely display an NDD phenotype. Thus, we have developed an…
Descriptors: Prediction, Neurodevelopmental Disorders, Identification, Genetics
Giovanna Cantini Tolezano; Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela Maria Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi – Journal of Autism and Developmental Disorders, 2024
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Neurodevelopmental Disorders
Laila Hadaya; Lucy Vanes; Vyacheslav Karolis; Dana Kanel; Marguerite Leoni; Francesca Happé; A. David Edwards; Serena J. Counsell; Dafnis Batalle; Chiara Nosarti – Journal of Autism and Developmental Disorders, 2024
Very preterm (VPT; < 33 weeks' gestation) toddlers screening positively for autism spectrum conditions (ASC) may display heterogenous neurodevelopmental trajectories. Here we studied neonatal brain volumes and childhood ASC traits evaluated with the Social Responsiveness Scale (SRS-2) in VPT-born toddlers (N = 371; median age 20.17 months)…
Descriptors: Autism Spectrum Disorders, Premature Infants, Neurodevelopmental Disorders, Screening Tests
Emma C. Woodford; Laurie K. McLay; Karyn G. France; Neville M. Blampied – Journal of Autism and Developmental Disorders, 2025
Purpose: The prevalence of sleep difficulties among children with rare genetic neurodevelopmental conditions (RGNC) is high. Behavioral interventions are commonly used in the treatment of sleep difficulties in children with neurodevelopmental conditions such as autism, however, research is scarce in children with RGNC. The range of co-occurring…
Descriptors: Sleep, Neurodevelopmental Disorders, Behavior Problems, Intervention
Taeyeop Lee; Hyeji Lee; Soowhee Kim; Kee Jeong Park; Joon-Yong An; Hyo-Won Kim – Journal of Autism and Developmental Disorders, 2024
The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72-84 months). Exome sequencing was conducted and putative risk variants were identified.…
Descriptors: Developmental Disabilities, Children, Genetics, Risk
Rabelo, Livia Nascimento; Queiroz, José Pablo Gonçalves; Castro, Carla Cristina Miranda; Silva, Sayonara Pereira; Campos, Laura Damasceno; Silva, Larissa Camila; Nascimento, Ezequiel Batista; Martínez-Cerdeño, Veronica; Fiuza, Felipe Porto – Journal of Autism and Developmental Disorders, 2023
Autism spectrum disorder (ASD) is manifested by abnormal cell numbers and patches of gene expression disruption in higher-order brain regions. Here, we investigated whether layer-specific changes in glia/neuron ratios (GNR) characterize patches in the dorsolateral prefrontal cortex (DL-PFC) of children with ASD. We analyzed high-resolution digital…
Descriptors: Autism Spectrum Disorders, Brain Hemisphere Functions, Children, Neurodevelopmental Disorders
Melissa Raspa; Angela Gwaltney; Carla Bann; Jana von Hehn; Timothy A. Benke; Eric D. Marsh; Sarika U. Peters; Amitha Ananth; Alan K. Percy; Jeffrey L. Neul – Journal of Autism and Developmental Disorders, 2025
Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver…
Descriptors: Neurodevelopmental Disorders, Genetic Disorders, Females, Test Validity
Daire Buckley; Ali S. Khashan; Fergus P. McCarthy; Karen O'Connor; Gillian M. Maher – Journal of Autism and Developmental Disorders, 2025
Objective: To examine the association between threatened miscarriage, and neurodevelopmental disorders, including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in offspring by age 14 years. Methods: We used data from the Millennium Cohort Study, a nationally representative longitudinal study of children born in…
Descriptors: Autism Spectrum Disorders, Neurodevelopmental Disorders, Attention Deficit Hyperactivity Disorder, Pregnancy
Lauren E. Mazur; Katelyn M. Even; Conrad Krawiec – Journal of Autism and Developmental Disorders, 2025
Children with neurodevelopmental disorders are at risk for burn injury, but the clinical outcomes, particularly mortality, are unknown in this patient population in the United States (U.S.). The main objectives of this study are to evaluate (1) subject characteristics; (2) burn injury type; (3) clinical care provided; and (4) mortality in children…
Descriptors: Children, Neurodevelopmental Disorders, At Risk Persons, Individual Characteristics
Maia C. Lazerwitz; Mikaela A. Rowe; Kaitlyn J. Trimarchi; Rafael D. Garcia; Robyn Chu; Mary C. Steele; Shalin Parekh; Jamie Wren-Jarvis; Ioanna Bourla; Ian Mark; Elysa J. Marco; Pratik Mukherjee – Journal of Autism and Developmental Disorders, 2024
Sensory Over-Responsivity (SOR) is an increasingly recognized challenge among children with neurodevelopmental concerns (NDC). To investigate, we characterized the incidence of auditory and tactile over-responsivity (AOR, TOR) among 82 children with NDC. We found that 70% of caregivers reported concern for their child's sensory reactions. Direct…
Descriptors: Sensory Experience, Neurodevelopmental Disorders, Children, Auditory Perception
Andrew E. Silva; Jane E. Harding; Arijit Chakraborty; Darren W. Dai; Greg D. Gamble; Christopher J. D. McKinlay; Samson Nivins; Rajesh Shah; Benjamin Thompson; Children with HYpoglycemia and their Later Development (CHYLD) Study Team – Journal of Autism and Developmental Disorders, 2024
The dorsal stream vulnerability hypothesis posits that the dorsal stream, responsible for visual motion and visuo-motor processing, may be particularly vulnerable during neurodevelopment. Consistent with this, autism spectrum disorder (ASD) has been associated with deficits in global motion integration, though deficits in ventral stream tasks,…
Descriptors: Children, Autism Spectrum Disorders, Visual Stimuli, Gender Differences
Sarah S. Mire; Dieu M. Truong; Georgina J. Sakyi; Mycah L. Ayala-Brittain; Jelisa D. Boykin; Christian M. Stewart; Fre'Dasia Daniels; Brenda Duran; Scarlett Gardner; Alexandra M. Barth; Georgette Richardson; Shannon L. McKee – Journal of Autism and Developmental Disorders, 2024
Underrepresentation of socioeconomically, culturally, and/or linguistically diverse (SCLD) children with neurodevelopmental disorders (NDD) and their families has become a focal point for researchers. This systematic review aimed to identify researchers' strategies for recruiting and retaining SCLD families of children with NDD, published between…
Descriptors: Disadvantaged, Language Minorities, Children, Neurodevelopmental Disorders
Kira Panzer; Alexis Harmon; Reginald Lerebours; Linmarie Sikich; Samuel Pullen; Heather Van Mater – Journal of Autism and Developmental Disorders, 2025
Purpose: Patients with neurodevelopmental disorders (NDD) (i.e. autism, developmental delay, early-onset psychiatric or seizure disorders) increasingly seek evaluation of new or exacerbated symptoms concerning for autoimmune encephalitis (AE). Clinical AE evaluation can be challenging in NDD patients with symptom overlap between anti-neuronal…
Descriptors: Patients, Medical Evaluation, Pediatrics, Neuropsychology
Andrea Q. Hoang; Dorothea C. Lerman; Jennifer Trang Nguyen – Journal of Autism and Developmental Disorders, 2024
Patients with neurodevelopmental disabilities generally have less access to necessary medical care compared to those without disabilities. Barriers to adequate care include patient fear and uncooperative behavior during routine medical procedures and inadequate preparation of medical professionals to treat this population. Researchers have…
Descriptors: Medical Students, Electronic Learning, Neurodevelopmental Disorders, Access to Health Care
Du, Xiaoli; Glass, Jennifer Elaine; Balow, Stephanie; Dyer, Lisa M.; Rathbun, Pamela A.; Guan, Qiaoning; Liu, Jie; Wu, Yaning; Dawson, D. Brian; Walters-Sen, Lauren; Smolarek, Teresa A.; Zhang, Wenying – Journal of Autism and Developmental Disorders, 2022
Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely…
Descriptors: Test Construction, Genetic Disorders, Patients, Diagnostic Tests
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